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Volumn 74, Issue 2, 1997, Pages 150-153

Lack of association between juvenile myoclonic epilepsy and GABRA5 and GABRB3 genes

Author keywords

association study; GABA(A) receptor subunit genes; juvenile myoclonic epilepsy

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR;

EID: 0030985726     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970418)74:2<150::AID-AJMG6>3.0.CO;2-Y     Document Type: Article
Times cited : (11)

References (28)
  • 1
    • 84878750902 scopus 로고
    • Severe epilepsy in a patient with Prader-Willi syndrome due to a inversion-duplication of chromosome 15q11-q13: A clinical, neurophysiological, and molecular genetic study
    • Sydney, Australia, September 3-8
    • Aguglia U, Gambardella D, Concolino D, Porta G, Sirchia S, Quattrone A (1995): Severe epilepsy in a patient with Prader-Willi syndrome due to a inversion-duplication of chromosome 15q11-q13: A clinical, neurophysiological, and molecular genetic study. 21st International Epilepsy Congress. Sydney, Australia, September 3-8.
    • (1995) 21st International Epilepsy Congress
    • Aguglia, U.1    Gambardella, D.2    Concolino, D.3    Porta, G.4    Sirchia, S.5    Quattrone, A.6
  • 2
    • 0038633389 scopus 로고
    • Genetic aspects of the epilepsies
    • Sillanpaa M, Johanssen SI, Blennow G. Dam M (eds): Petershield, UK: Wrightson Biomedical
    • Andersen VE, Hauser WA, Olaffson E, Rich S (1990): Genetic aspects of the epilepsies. In Sillanpaa M, Johanssen SI, Blennow G. Dam M (eds): "Paediatric Epilepsy." Petershield, UK: Wrightson Biomedical, pp 37-56.
    • (1990) Paediatric Epilepsy , pp. 37-56
    • Andersen, V.E.1    Hauser, W.A.2    Olaffson, E.3    Rich, S.4
  • 3
    • 0024760639 scopus 로고
    • A receptor subunit genes: Relationship to human genetic disease
    • A receptor subunit genes: Relationship to human genetic disease. Neuron 3:647-654.
    • (1989) Neuron , vol.3 , pp. 647-654
    • Buckle, V.J.1    Fujita, N.2    Ryder-Cook, A.S.3
  • 6
    • 0000819728 scopus 로고
    • A revised proposal for the classification of epilepsy and epileptic syndromes
    • Commission on Classification and Terminology of the International League Against Epilepsy (1989): A revised proposal for the classification of epilepsy and epileptic syndromes. Epilepsia 30:268-278.
    • (1989) Epilepsia , vol.30 , pp. 268-278
  • 8
    • 0025671875 scopus 로고
    • Gene mapping in the idiopathic generalized epilepsies: Juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, early childhood myoclonic epilepsy
    • Delgado-Escueta AV, Greenberg D, Weissbecker K (1990): Gene mapping in the idiopathic generalized epilepsies: Juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, early childhood myoclonic epilepsy. Epilepsia 31[Suppl]:19-29.
    • (1990) Epilepsia , vol.31 , Issue.SUPPL. , pp. 19-29
    • Delgado-Escueta, A.V.1    Greenberg, D.2    Weissbecker, K.3
  • 9
    • 0026096204 scopus 로고
    • Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy
    • Durner M, Sander T, Greenberg DA, Johnson K, Beck-Mannagetta G, Janz D (1991): Localization of idiopathic generalized epilepsy on chromosome 6p in families of juvenile myoclonic epilepsy. Neurology 41:1651-1655.
    • (1991) Neurology , vol.41 , pp. 1651-1655
    • Durner, M.1    Sander, T.2    Greenberg, D.A.3    Johnson, K.4    Beck-Mannagetta, G.5    Janz, D.6
  • 15
    • 0024531240 scopus 로고
    • Juvenile myoclonic epilepsy
    • Janz D (1989): Juvenile myoclonic epilepsy. Cleve Clin J Med 56:23-33.
    • (1989) Cleve Clin J Med , vol.56 , pp. 23-33
    • Janz, D.1
  • 16
    • 0002015247 scopus 로고
    • Family studies on the genetics of juvenile myoclonic epilepsy (epilepsy with impulsive petit mal)
    • Beck-Mannagetta G, Anderson VE, Doose H, Janz D (eds): Heidelberg: Springer-Verlag
    • Janz D, Durner M, Beck-Mannagetta G, Pantazis (1989): Family studies on the genetics of juvenile myoclonic epilepsy (epilepsy with impulsive petit mal). In Beck-Mannagetta G, Anderson VE, Doose H, Janz D (eds): "Genetics of the Epilepsies." Heidelberg: Springer-Verlag, pp 43-52.
    • (1989) Genetics of the Epilepsies , pp. 43-52
    • Janz, D.1    Durner, M.2    Beck-Mannagetta, G.3    Pantazis4
  • 18
    • 0027359350 scopus 로고
    • Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
    • Lewis TB, Leach RJ, Ward K, O'Connell P, Ryan SG (1993): Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q. Am J Hum Genet 53:670-675.
    • (1993) Am J Hum Genet , vol.53 , pp. 670-675
    • Lewis, T.B.1    Leach, R.J.2    Ward, K.3    O'Connell, P.4    Ryan, S.G.5
  • 19
    • 84990814740 scopus 로고
    • Chromosome 6p markers and juvenile myoclonic epilepsy: Negative linkage and evidence for a second EJM locus
    • Liu A, Degado-Escueta AV, Weissbecker K, Serratosa S, Treiman LJ, Sparkes RS (1992): Chromosome 6p markers and juvenile myoclonic epilepsy: Negative linkage and evidence for a second EJM locus. Epilepsia 33:73.
    • (1992) Epilepsia , vol.33 , pp. 73
    • Liu, A.1    Degado-Escueta, A.V.2    Weissbecker, K.3    Serratosa, S.4    Treiman, L.J.5    Sparkes, R.S.6
  • 20
    • 0016590785 scopus 로고
    • Epilepsy and GABA-mediated inhibition
    • Meldrum BS (1975): Epilepsy and GABA-mediated inhibition. Int Rev Neurobiol 17:1-36.
    • (1975) Int Rev Neurobiol , vol.17 , pp. 1-36
    • Meldrum, B.S.1
  • 22
    • 0024321057 scopus 로고
    • Juvenile myoclonic epilepsy: An autosomal recessive disease
    • Panayiotopoulos CP, Obeid T (1989): Juvenile myoclonic epilepsy: An autosomal recessive disease. Ann Neurol 25:440-443.
    • (1989) Ann Neurol , vol.25 , pp. 440-443
    • Panayiotopoulos, C.P.1    Obeid, T.2
  • 23
    • 0029741063 scopus 로고    scopus 로고
    • The future of genetic studies of complex human diseases
    • Risch N, Merikangas K (1996): The future of genetic studies of complex human diseases. Science 273:1516-1517.
    • (1996) Science , vol.273 , pp. 1516-1517
    • Risch, N.1    Merikangas, K.2
  • 24
    • 0027508152 scopus 로고
    • High-resolution mapping of the γ-aminobutyric acid receptor subunit β3 and α5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients
    • Sinnett D, Wagstaff J, Glatt K, Woolf E, Kirkness EJ, Lalande M (1993): High-resolution mapping of the γ-aminobutyric acid receptor subunit β3 and α5 gene cluster on chromosome 15q11-q13, and localization of breakpoints in two Angelman syndrome patients. Am J Hum Genet 52:1216-1229.
    • (1993) Am J Hum Genet , vol.52 , pp. 1216-1229
    • Sinnett, D.1    Wagstaff, J.2    Glatt, K.3    Woolf, E.4    Kirkness, E.J.5    Lalande, M.6
  • 25
    • 0023915850 scopus 로고
    • The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein gene
    • Thompson EA, Deebs F, Walker D, Motulsky AG (1988): The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein gene. Am J Hum Genet 42:113-124.
    • (1988) Am J Hum Genet , vol.42 , pp. 113-124
    • Thompson, E.A.1    Deebs, F.2    Walker, D.3    Motulsky, A.G.4
  • 26
    • 0015699587 scopus 로고
    • On the genetics of primary generalized epilepsy with sporadic myoclonias of impulsive petit mal type
    • Tsuboi T, Christian W (1973): On the genetics of primary generalized epilepsy with sporadic myoclonias of impulsive petit mal type. Humangenetik 19:155-182.
    • (1973) Humangenetik , vol.19 , pp. 155-182
    • Tsuboi, T.1    Christian, W.2
  • 27
  • 28
    • 0027362601 scopus 로고
    • Linkage analyzed of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: No evidence for an epileptic locus in the HLA region
    • Whitehouse WP, Rees M, Curtis D, Sundqvist A, Parker K, Chung E, Baralle D, Gardiner M (1993): Linkage analyzed of idiopathic generalized epilepsy (IGE) and marker loci on chromosome 6p in families of patients with juvenile myoclonic epilepsy: No evidence for an epileptic locus in the HLA region. Am J Hum Genet 53:652-662.
    • (1993) Am J Hum Genet , vol.53 , pp. 652-662
    • Whitehouse, W.P.1    Rees, M.2    Curtis, D.3    Sundqvist, A.4    Parker, K.5    Chung, E.6    Baralle, D.7    Gardiner, M.8


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.